Study Unearths Clues on How Body Absorbs Folate

FRIDAY, Dec. 1 (HealthDay News) -- U.S. researchers say they've identified the mechanism by which the intestinal tract absorbs the B vitamin folate from food.

A team at the Albert Einstein College of Medicine, Yeshiva University, found that a protein called PCFT/HCP1 transports folate molecules from matter in the small intestine into intestinal cells.

They also found that a mutation in the PCFT/HCP1 gene causes hereditary folate malabsorption, a rare but potentially fatal disorder. Infants born with this disorder must be given high doses of folate in order to prevent severe anemia and neurological problems.

The study is published in the Dec. 1 issue of the journal Cell.

The researchers said their findings solve the mystery of how the body absorbs folate from foods and pave the way to a genetic test to quickly identify and treat infants who are unable to absorb folate, which is also called folic acid.

"We can't live without folate," study senior author Dr. I. David Goldman, director of the Albert Einstein Cancer Center, said in a prepared statement.

"Adequate folate in our diet -- and our small intestine's ability to absorb it -- is crucial for synthesizing DNA and other important constituents of our bodies. Folate deficiency in the developing embryo can cause developmental nervous-system defects such as spina bifida. After birth, infants with folate deficiency can experience anemia, immune deficiency with severe infections, and neurological defects such as seizures and mental retardation. And in adults, folate deficiency has been associated with an increased risk of certain cancers," Goldman said.